[A genomewide scan for the susceptibility gene loci to ankylosing spondylitis in Chinese Han population].

Ankylosing spondylitis (AS) is a common inflammatory arthritis, with a prevalence of 1@1000-3@1000 in Caucasian and 2@1000 in Chinese population. The recognition of the association of HLA-B27 with AS confirmed the importance of heritable factors in the disease. Whole-genome scans showed that some affected-sibling-pair families with AS not only demonstrated strong linkage to the MHC locus, but also identified other regions with suggestive or stronger linkage on chromosomes 1p, 2q, 9q, 10q, 16q and 19q. In order to localize the regions containing genes that determine susceptibility to AS in Chinese Han population, a genomewide screen was performed in nine Chinese families with AS, including 29 affected individuals. LINKAGE and GENEHUNTER packages were used for parametric (LOD) and non-parametric (NPL) analysis. The significant two-point LOD score value with D6S276 (at 44.9 cM from the 6p terminal) was 3.8821 in parametric analysis. Fine mapping showed LOD scores of D6S1691 (at 42.7 cM) and D6S1618 (at 47.6 cM) around D6S276 were 1.5717 and 2.0056, respectively. Single point NPL score of D6S276, D6S1691 and D6S1618 were 2.6053, 2.7490, 2.0202, respectively, and minimum P value were 0.0072, 0.0047, and 0.0265, respectively. Using multipoint NPL, the maximum LOD score values, NPL score and minimum P value obtained near D6S276 were 5.0623, 3,7561, and 0.000233, respectively. As a result, the strong linkage of the D6S276 with AS was found, the region of D6S1691-D6S276-D6S1618 existed a susceptibility gene of AS. In addition, the LOD scores of D3S1292, D4S1535 and D18S64 were larger than 1.0, so they might be some suggestive linkage markers with AS.

[Killer Ig-like receptor gene content diversity and haplotype analysis in Chinese Han population in Shanghai].

OBJECTIVE: To detect the diversity of killer Ig-like receptor(KIR) gene content and the combination of haplotypes in Chinese Han population in Shanghai area. METHODS: DNA samples from 87 randomly unrelated healthy individuals in Shanghai Han population were genotyped with SSP/PCR method. RESULTS: (1) Frequencies of KIR genes: All of 18 known KIRs genes, such as 2DL1-5, 2DS1-5, 3DL1-3, 3DS1, KIR1D and the pseudogenes X, Xv and Z(KIR2DP1) were observed in Shanghai Hans. All individuals contain 3DL3, 2DL4, 3DL2 and 3DL1; the most common genes were 2DL3, Z, 2DL1 and X; the following were 2DS4, 1D, 2DL5, 2DS1, 3DS1 and 2DS5; the next were 2DS2, 2DL2, 2DS3 and Xv. (2) Frequencies of KIR gene haplotypes; there were 13 haplotypes detected in 87 Han individuals, among them, the most frequent one was type 2 (haplotypeA-2DS4). (3) Frequencies of KIR genotypes: 18 kinds of the combinations of the haplotypes were observed; the most frequent ones were AJ(2,2), AF (1,2). Also, In this study were identified five new genotypes FZ1 2 9 , FZ2 1 16 , FZ3 6 17 , FZ4 4 13 and FZ5 2 6 ,which had not been observed in Caucasians so far. CONCLUSION: These findings suggest that there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Chinese Han population in Shanghai area.

[The relationship between haplotypes of multilocus markers and ankylosing spondylitis].

OBJECTIVE: To investigate the relationship between haplotypes of multilocus markers and ankylosing spondylitis (AS). METHODS: Five families with AS were recruited from Shanghai area. Eleven microsatellite markers around D6S276 were analyzed by Linkage package and by Cyrillic package. RESULTS: Fine linkage analysis showed the significant Lod score values with D6S276 was 3.8821, Lod score values with D6S1691 and D6S1618 near D6S276 were larger than 1.5. The crossover value in 5 pedigrees was 14%. The haplotype analysis showed that the regions between D6S1691 and D6S1618 were associated with AS. CONCLUSION: The regions of D6S1691-D6S276-D6S1618 may harbor a susceptible gene of AS. The specific haplotypes of different pedigrees may play an important role in the presymptomatic diagnosis for AS.